Concepedia

<i>PRRT2</i> mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response

Hong‐Fu Li, Wan‐Jin Chen, Ni Wang, Kaiyan Wang, Gong‐Lu Liu, Ning Wang, Zhi‐Qi Xiong, Jianfeng Xu, Zhi‐Ying Wu

Neurology · 2013 · 57 citations · 6 references

DOI

Concepts

Abstract

The Bruno et al.1 criteria are commonly used to diagnose paroxysmal kinesigenic dyskinesia (PKD), listed as follows:

References

6

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Wan‐Jin Chen, Yu Lin, Zhi‐Qi Xiong et al. · Nature Genetics · 2011 · 487 citations

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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

J.-L. Wang, Li Cao, Xinhua Li et al. · Brain · 2011 · 295 citations · Full text

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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Hsien-Yang Lee, Yong Huang, Nadine Bruneau et al. · Cell Reports · 2012 · 267 citations · Full text

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Targeted genomic sequencing identifies <i>PRRT2</i> mutations as a cause of paroxysmal kinesigenic choreoathetosis

Jingyun Li, Xilin Zhu, Xin Wang et al. · Journal of Medical Genetics · 2011 · 92 citations · Full text

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi‐Chung Lee, Ming‐Jen Lee, Hsiang‐Yu Yu et al. · PLoS ONE · 2012 · 49 citations · Full text

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